Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001187512 | SCV001354330 | uncertain significance | Cardiomyopathy | 2022-12-06 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with glycine at codon 1886 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002348629 | SCV002652363 | uncertain significance | Cardiovascular phenotype | 2022-10-03 | criteria provided, single submitter | clinical testing | The p.E1886G variant (also known as c.5657A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 5657. The glutamic acid at codon 1886 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |